research Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
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570-600 / 1000+ resultsresearch Genetic and other epidemiological risk factors of infants and children with hypospadias: a case control study
Older parental age, rural living, and specific genetic mutations increase hypospadias risk in children.
research Functional analysis of vitamin D receptor (VDR) using adenovirus vector
The study found that certain mutations in the vitamin D receptor can cause rickets and potentially affect hair growth.
research Alopecia in Harlequin mutant mice is associated with reduced AIF protein levels and expression of retroviral elements
Harlequin mutant mice have hair loss due to low AIF protein levels and retroviral element activity.
research Marie-unna hereditary hypotrichosis
A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
research Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
A mutation in the KRT86 gene causes hair fragility in a Turkish family.
research A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin
A specific gene mutation causes different hair defects in Indian monilethrix families.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Diagnosis and Management of Melanoma of the Scalp: A Review of the Literature
Scalp melanoma, a deadly skin cancer, is often found late due to its hard-to-see location, especially in older men. Early detection, possible treatments, and the role of hairdressers in spotting it early are discussed. More research is needed to improve detection and treatment.
research Hairless-knockout piglets generated using the clustered regularly interspaced short palindromic repeat/CRISPR-associated-9 exhibit abnormalities in the skin and thymus
Pigs without the Hairless gene showed skin and thymus changes, useful for studying human hair disorders.
research Spontaneous fertility in a male patient with testotoxicosis despite suppression of FSH levels
A man with testotoxicosis was fertile despite low FSH levels, suggesting high testosterone may allow sperm production without FSH.
research Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities
Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
research Homologous recombination induced by doxazosin mesylate and saw palmetto in the Drosophila wing‐spot test
Doxazosin mesylate and saw palmetto cause genetic changes in fruit flies.
research Progeroide Syndrome
Genetic mutations affecting DNA repair cause early aging symptoms in progeroid syndromes.
research Phenotyping mice with skin, hair, or nail abnormalities: A systematic approach and methodologies from simple to complex
Understanding genetic variations in mice is crucial for studying skin, hair, or nail abnormalities.
research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
research Claves diagnósticas en displasias pilosas II
Hair shaft disorders are diagnosed through examination and history, with general care and some treatments offering improvement.
research Attenuation of Autoimmune Phenomena in a Patient with Autoimmune Polyglandular Syndrome Type 1
The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.
research Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1
A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
research MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
research Advances in genetic and molecular understanding of Omenn syndrome - implications for the future
Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
research Focal Scalp Hair Heterochromia in an Infant
An infant had two different natural hair colors on the scalp with no health issues.
research Skin Stem Cells: At the Frontier Between the Laboratory and Clinical Practice. Part 1: Epidermal Stem Cells
Epidermal stem cells show promise for future dermatology treatments due to ongoing advancements.
research Nonclassic congenital adrenal hyperplasia and the heterozygote carrier
Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
research Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type
Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
research Adrenal Cortex Tumors and Hyperplasias
Most adrenal cortex tumors are benign and non-secreting, but proper diagnosis and treatment are important due to the rare possibility of cancer.
research Corneodesmosin: Structure, Function and Involvement in Pathophysiology
Corneodesmosin is essential for skin and hair health, and its dysfunction can lead to skin and hair disorders.
research Clinical Impact of Molecular Diagnostics in Endocrinology
Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
research Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience
Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
research WNT10A gene variants at the root of short anagen hair syndrome
WNT10A gene mutations cause short anagen hair syndrome.